Hereditary Spastic Paraplegia - paediatric

Gene: RINT1

Green List (high evidence)

Fourth individual reported, compound heterozygous LoF variants and HSP phenotype.

Created: 2 Aug 2024, 6:27 a.m. | Last Modified: 2 Aug 2024, 6:27 a.m.

Panel Version: 1.76

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary spastic paraplegia, MONDO:0019064, RINT1-related

Publications

• 38990652

I don't know

PMID: 37463447
- 3 individuals from 2 unrelated families with biallelic LoF variants - hom canonical spice variant in 1 family, chet stopgain+canonical splice variants in another family.
- Affected individuals presented with early onset spastic paraplegia, ataxia, optic nerve hypoplasia, and dysmorphic features, broadening the previously described phenotype.
- One of the individual died at 14 months due to acute liver failure, probably before the development of a neurological phenotype. The episodic liver dysfunction two other patients was very similar to that previously reported in PMID: 31204009.
- RNA studies showed the splice variants result in aberrant splicing. Other functional and lipidomic analyses supportive of pathogenicity.
Sources: Literature

Created: 3 Aug 2023, 3:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary spastic paraplegia, MONDO:0019064, RINT1-related

Publications

• 37463447

Variants in this GENE are reported as part of current diagnostic practice